Five families with proband children affected by spinal muscular atrophy (SMA) were recruited from November 2014 to March 2015. Deletions of exon 7 and exon 8 in SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA). Parental and fetal haplotypes were obtained. Results from the haplotype based testing were compared to MLPA, the current standard diagnostic method, on fetal cells from amniotic fluid or chorionic villi. Parental haplotypes of the SMN1 gene and the flanking region were successfully constructed in the five families. Assisted by parental haplotypes information, 1 case to be homozygous deletion of exon7 and exon8, 2 cases to be heterozygous deletion of exon7 and exon8 and 2 normal cases were identified. All these results were consistent with the result by MLPA.
